Case report: Umbilical vessel aneurysm thrombosis and factor V Leiden mutation leading to fetal demise
Complicated pregnancies are nowadays a major public health concern, with possible lethality or sequelae both for the mother and the fetus. Blood coagulation disorders (including antiphospholipid syndrome, factor V Leiden mutation and antithrombin deficiency) and hypertensive gestational disorders ar...
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Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2022.1083806/full |
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| author | Camélia Oualiken Camélia Oualiken Olivia Martz Nadia Idrissi Fara Tanjona Harizay Laurent Martin Emmanuel De Maistre Lou Ricaud Georges Tarris |
| author_facet | Camélia Oualiken Camélia Oualiken Olivia Martz Nadia Idrissi Fara Tanjona Harizay Laurent Martin Emmanuel De Maistre Lou Ricaud Georges Tarris |
| author_sort | Camélia Oualiken |
| collection | DOAJ |
| description | Complicated pregnancies are nowadays a major public health concern, with possible lethality or sequelae both for the mother and the fetus. Blood coagulation disorders (including antiphospholipid syndrome, factor V Leiden mutation and antithrombin deficiency) and hypertensive gestational disorders are very well-known contributors of complicated pregnancies with poor fetal outcome, such as intrauterine growth retardation (IUGR) and fetal demise. Less commonly, vascular malformations of the placenta can also potentially lead to serious complications such as IUGR and fetal death. These malformations include hypercoiled umbilical cord, umbilical cord knot, umbilical cord varix, umbilical cord arterial or venous aneurysm, and velamentous insertion of the umbilical cord potentially leading to Benckiser's hemorrhage. Here, we report the case of a 29-year-old Gravida 2 Para 0 mother with previous history of stillbirth and smoking, admitted to the obstetrics department for the absence of fetal movement at 38 weeks of amenorrhea (WA). First-trimester and second-trimester routine ultrasounds were otherwise normal. Ultrasound performed at 38 WA revealed a 83 × 66 × 54 mm cystic heterogenous mass at the umbilical cord insertion. After delivery, fetal and placental pathology as well as maternal blood testing were performed. Fetal pathology was otherwise normal, except for diffuse congestion and meconial overload suggesting acute fetal distress. Fetal karyotype was normal (46 XX). Placental pathology revealed an umbilical artery aneurysm (UAA) at the base of the insertion of the umbilical cord, lined with a CD34+ CD31+ endothelium. After dissection, the aneurysm was filled with hemorrhagic debris, indicating aneurysm thrombosis. Histopathology revealed associated maternal vascular malperfusion (MVM) and increased peri-villous fibrin (IPF). Maternal blood tests revealed heterozygous factor V Leiden mutation, without other associated auto-immune conditions (such as antiphospholipid syndrome). Umbilical artery aneurysms remain extremely rare findings in the placenta, with <20 reported cases. Umbilical artery aneurysms have tendency to be located at the base of the insertion of the placenta, and lead to fetal demise in more than 60% of cases, mainly due to aneurysmal thrombosis, hematoma, possible vascular compression and/or rupture. Umbilical vessel aneurysms can be associated with trisomy 18 or 13. In our case, the association of factor V Leiden mutation, a hypercoagulable state, with UAA could explain massive thrombosis of the aneurysmal lumen and sudden fetal demise. Further consideration of current guidelines for surveillance and management of UAA would allow appropriate planned delivery in maternal care settings. |
| first_indexed | 2024-04-11T01:02:58Z |
| format | Article |
| id | doaj.art-4d9437f8a9564b50a4e0c486489d8d70 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-11T01:02:58Z |
| publishDate | 2023-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Medicine |
| spelling | doaj.art-4d9437f8a9564b50a4e0c486489d8d702023-01-04T14:27:34ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2023-01-01910.3389/fmed.2022.10838061083806Case report: Umbilical vessel aneurysm thrombosis and factor V Leiden mutation leading to fetal demiseCamélia Oualiken0Camélia Oualiken1Olivia Martz2Nadia Idrissi3Fara Tanjona Harizay4Laurent Martin5Emmanuel De Maistre6Lou Ricaud7Georges Tarris8Department of Pathology, University Hospital of Dijon, Dijon, FranceForensics Institute, University Hospital of Dijon, Dijon, FranceDepartment of Obstetrics and Gynecology, Prenatal Diagnostic Center, Gynecology Emergency Services, University Hospital of Dijon, Dijon, FrancePrivate Practice Center, Dijon, FranceDepartment of Pathology, University Hospital of Dijon, Dijon, FranceDepartment of Pathology, University Hospital of Dijon, Dijon, FranceDepartment of Hemostasis, University Hospital of Dijon, Dijon, FranceDepartment of Obstetrics and Gynecology, Prenatal Diagnostic Center, Gynecology Emergency Services, University Hospital of Dijon, Dijon, FranceDepartment of Pathology, University Hospital of Dijon, Dijon, FranceComplicated pregnancies are nowadays a major public health concern, with possible lethality or sequelae both for the mother and the fetus. Blood coagulation disorders (including antiphospholipid syndrome, factor V Leiden mutation and antithrombin deficiency) and hypertensive gestational disorders are very well-known contributors of complicated pregnancies with poor fetal outcome, such as intrauterine growth retardation (IUGR) and fetal demise. Less commonly, vascular malformations of the placenta can also potentially lead to serious complications such as IUGR and fetal death. These malformations include hypercoiled umbilical cord, umbilical cord knot, umbilical cord varix, umbilical cord arterial or venous aneurysm, and velamentous insertion of the umbilical cord potentially leading to Benckiser's hemorrhage. Here, we report the case of a 29-year-old Gravida 2 Para 0 mother with previous history of stillbirth and smoking, admitted to the obstetrics department for the absence of fetal movement at 38 weeks of amenorrhea (WA). First-trimester and second-trimester routine ultrasounds were otherwise normal. Ultrasound performed at 38 WA revealed a 83 × 66 × 54 mm cystic heterogenous mass at the umbilical cord insertion. After delivery, fetal and placental pathology as well as maternal blood testing were performed. Fetal pathology was otherwise normal, except for diffuse congestion and meconial overload suggesting acute fetal distress. Fetal karyotype was normal (46 XX). Placental pathology revealed an umbilical artery aneurysm (UAA) at the base of the insertion of the umbilical cord, lined with a CD34+ CD31+ endothelium. After dissection, the aneurysm was filled with hemorrhagic debris, indicating aneurysm thrombosis. Histopathology revealed associated maternal vascular malperfusion (MVM) and increased peri-villous fibrin (IPF). Maternal blood tests revealed heterozygous factor V Leiden mutation, without other associated auto-immune conditions (such as antiphospholipid syndrome). Umbilical artery aneurysms remain extremely rare findings in the placenta, with <20 reported cases. Umbilical artery aneurysms have tendency to be located at the base of the insertion of the placenta, and lead to fetal demise in more than 60% of cases, mainly due to aneurysmal thrombosis, hematoma, possible vascular compression and/or rupture. Umbilical vessel aneurysms can be associated with trisomy 18 or 13. In our case, the association of factor V Leiden mutation, a hypercoagulable state, with UAA could explain massive thrombosis of the aneurysmal lumen and sudden fetal demise. Further consideration of current guidelines for surveillance and management of UAA would allow appropriate planned delivery in maternal care settings.https://www.frontiersin.org/articles/10.3389/fmed.2022.1083806/fullumbilical vessel aneurysmthrombosisthrombophiliafetal demisestillbirthumbilical artery aneurysm |
| spellingShingle | Camélia Oualiken Camélia Oualiken Olivia Martz Nadia Idrissi Fara Tanjona Harizay Laurent Martin Emmanuel De Maistre Lou Ricaud Georges Tarris Case report: Umbilical vessel aneurysm thrombosis and factor V Leiden mutation leading to fetal demise Frontiers in Medicine umbilical vessel aneurysm thrombosis thrombophilia fetal demise stillbirth umbilical artery aneurysm |
| title | Case report: Umbilical vessel aneurysm thrombosis and factor V Leiden mutation leading to fetal demise |
| title_full | Case report: Umbilical vessel aneurysm thrombosis and factor V Leiden mutation leading to fetal demise |
| title_fullStr | Case report: Umbilical vessel aneurysm thrombosis and factor V Leiden mutation leading to fetal demise |
| title_full_unstemmed | Case report: Umbilical vessel aneurysm thrombosis and factor V Leiden mutation leading to fetal demise |
| title_short | Case report: Umbilical vessel aneurysm thrombosis and factor V Leiden mutation leading to fetal demise |
| title_sort | case report umbilical vessel aneurysm thrombosis and factor v leiden mutation leading to fetal demise |
| topic | umbilical vessel aneurysm thrombosis thrombophilia fetal demise stillbirth umbilical artery aneurysm |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2022.1083806/full |
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